A Novel 12q13.2-q13.3 Microdeletion Syndrome With Combined Features of Diamond Blackfan Anemia, Pierre Robin Sequence and Klippel Feil Deformity

A PP6-ASK3 Module Coordinates the Bidirectional Cell Volume Regulation under Osmotic Stress

(2018) Kengo Watanabe et al.   Cell Reports

Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation

(2017) Lisa Mirabello et al.   JOURNAL OF MEDICAL GENETICS

Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control

(2017) Federico Tessadori et al.   NATURE GENETICS

Quantitative Measurements of the Skull Base and Craniovertebral Junction in Congenital Occipitalization of the Atlas: A Computed Tomography–Based Anatomic Study

(2017) Rui Zong et al.   World Neurosurgery

Best Practices for the Diagnosis and Evaluation of Infants With Robin Sequence

(2016) Corstiaan C. Breugem et al.   JAMA Pediatrics

A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation inMYO18B

(2015) Anas M Alazami et al.   JOURNAL OF MEDICAL GENETICS

Obstructive sleep apnoea in children with craniofacial syndromes

(2015) Christopher M. Cielo et al.   Paediatric Respiratory Reviews

Endocrine Dysfunction in Diamond-Blackfan Anemia (DBA): A Report from the DBA Registry (DBAR)

(2015) Amit Lahoti et al.   PEDIATRIC BLOOD & CANCER

Occipital Condyles Congenital Dislocation and Condylus Tertius

(2015) Giorgio Lofrese et al.   SPINE

Atlas Assimilation Patterns in Different Types of Adult Craniocervical Junction Malformations

(2015) Edson Dener Zandonadi Ferreira et al.   SPINE

The Surgical Treatment Principles of Atlantoaxial Instability Focusing on Rheumatoid Arthritis

(2015) Yu-Tung Shih et al.   Biomed Research International

SLC39A5mutations interfering with the BMP/TGF-β pathway in non-syndromic high myopia

(2014) Hui Guo et al.   JOURNAL OF MEDICAL GENETICS

Mutations in MEOX1, Encoding Mesenchyme Homeobox 1, Cause Klippel-Feil Anomaly

(2013) Jawahir Y. Mohamed et al.   AMERICAN JOURNAL OF HUMAN GENETICS

High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay

(2012) P. Quarello et al.   HAEMATOLOGICA

Frameshift mutation in p53 regulatorRPL26is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia

(2012) Hanna T. Gazda et al.   HUMAN MUTATION

Can mutations in the ribosomal protein S26 (RPS26) gene lead to Klippel–Feil syndrome in Diamond–Blackfan anemia patients? An update from the Czech Diamond–Blackfan Anemia registry

(2011) Radek Cmejla et al.   BLOOD CELLS MOLECULES AND DISEASES

Identification and Characterization of the Host Protein DNAJC14 as a Broadly Active Flavivirus Replication Modulator

(2011) Zhigang Yi et al.   PLoS Pathogens

Post-traumatic peripheral facial nerve palsy: surgical and neuroradiological consideration in five cases of delayed onset

(2010) Michele Rotondo et al.   ACTA NEUROCHIRURGICA

Ribosomal Protein Genes RPS10 and RPS26 Are Commonly Mutated in Diamond-Blackfan Anemia

(2010) Leana Doherty et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The ribosomal basis of diamond-blackfan anemia: mutation and database update

(2010) Ilenia Boria et al.   HUMAN MUTATION

Evaluation of the C1–C2 Articulation on MDCT in Healthy Children and Young Adults

(2009) Carlos A. Rojas et al.   AMERICAN JOURNAL OF ROENTGENOLOGY

Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies

(2009) M. Ye et al.   HUMAN MOLECULAR GENETICS

Our Experiences Managing a Patient With Mandibular Duplication and Cervical Spinal Fusion

(2009) Sami A. Al-Ani et al.   JOURNAL OF CRANIOFACIAL SURGERY

Pierre Robin sequence: appearances and 25 years of experience with an innovative treatment protocol

(2009) Kurt-W. Bütow et al.   JOURNAL OF PEDIATRIC SURGERY

The Hierarchy of Exon-Junction Complex Assembly by the Spliceosome Explains Key Features of Mammalian Nonsense-Mediated mRNA Decay

(2009) Niels H. Gehring et al.   PLOS BIOLOGY

Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference

(2008) Adrianna Vlachos et al.   BRITISH JOURNAL OF HAEMATOLOGY

Specific entities affecting the craniocervical region: syndromes affecting the craniocervical junction

(2008) Arnold H. Menezes et al.   CHILDS NERVOUS SYSTEM

Imaging the craniocervical junction

(2008) Wendy R. K. Smoker et al.   CHILDS NERVOUS SYSTEM

Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome

(2008) May Tassabehji et al.   HUMAN MUTATION